Cockayne's syndrome--difficulties with early diagnosis.
The features of Cockayne's syndrome do not appear until 4 to 5 years of age. Early diagnosis is important for proper genetic counselling and antenatal screening. Despite various "diagnostic tests" offered by many authors, early diagnosis of the syndrome is still problematic. Four cases which were initially diagnosed as cerebral palsy are presented to illustrate this difficulty. Two cases were diagnosed as spastic cerebral palsy and the other two as familial spastic paraplegia. The features of Cockayne's syndrome appeared later.
Hiew
T M
TM
Department of Paediatrics, Tan Tock Seng Hospital, Singapore.
Lim
K W
KW
D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D003057:Cockayne Syndrome / Q000175:diagnosis*; D005260:Female; D006801:Humans; D008297:Male